{"Name":"Peroxisome biogenesis disorder","DiseaseID__c":"GARD:0011890","id":11890,"encodedName":"peroxisome-biogenesis-disorder","IsDeleted":false,"Disease_Name_Full__c":"Peroxisome biogenesis disorder","Xref_IDs__c":"742876007; C146639; C155747; C1832200; C531857; C536664; DOID:0080377; MEDGEN:330407; MONDO:0019234; OMIMPS:214100; ORPHA:79189","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019234","Disease_Description__c":"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms).","GARD_Name__c":"Peroxisome biogenesis disorder","GARD_Synonym__c":"pbd-zsd; pbd, zss; peroxisomal biogenesis disorders; peroxisomal biogenesis disorders, zellweger syndrome spectrum; peroxisome biogenesis disorder spectrum; peroxisome biogenesis disorder-zellweger spectrum disorder; peroxisome biogenesis disorder-zellweger syndrome spectrum; peroxisome biogenesis disorders, zellweger syndrome spectrum","Curated_Disease_Description_Source__c":"GARD:0011890","Curated_Disease_Description__c":"Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by genetic changes in any of at least 12 genes and are inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79189","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019234","ORPHANET_ID__c":"ORPHA:79189","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno de la biogénesis del peroxisoma","Spanish_Description_Source__c":"ORPHA:79189","Spanish_Description__c":"Los trastornos de la biogénesis del peroxisoma, el espectro del síndrome Zellweger (PBD-ZSS), son un grupo de trastornos autosómicos recesivos que afectan a la función de los peroxisomas. Se caracteriza por pérdida de audición, degeneración retiniana pigmentaria, disfunción multiorgánica y deterioro psicomotor, y abarca las variantes fenotípicas del síndrome de Zellweger (ZS), la adrenoleucodistrofia neonatal (NALD) y la enfermedad de Refsum infantil (IRD) (consulte estos términos).","Spanish_Disease_Name__c":"trastorno de la biogénesis del peroxisoma","Spanish_GARD_Synonym__c":"espectro de trastornos de la biogénesis del peroxisoma; trastorno de la biogénesis del peroxisoma-trastorno del espectro zellweger; trastorno de la biogénesis peroxisomal","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by genetic changes in any of at least 12 genes and are inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0011890","GARD_Synonym__c":"pbd-zsd; pbd, zss; peroxisomal biogenesis disorders; peroxisomal biogenesis disorders, zellweger syndrome spectrum; peroxisome biogenesis disorder spectrum; peroxisome biogenesis disorder-zellweger spectrum disorder; peroxisome biogenesis disorder-zellweger syndrome spectrum; peroxisome biogenesis disorders, zellweger syndrome spectrum","Name":"Peroxisome biogenesis disorder","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Global Foundation for Peroxisomal Disorders","Website__c":"https://thegfpd.org/"},{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79189"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79189"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C531857","Source__c":"MONDO:0019234","Xref__c":"C531857"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=742876007","Source__c":"MONDO:0019234","Xref__c":"742876007"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C146639","Source__c":"MONDO:0019234","Xref__c":"C146639"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330407","Source__c":"C1832200","Xref__c":"MEDGEN:330407"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536664","Source__c":"MONDO:0019234","Xref__c":"C536664"},{"URL__c":"https://www.orpha.net/en/disease/detail/79189","Source__c":"C1832200; MONDO:0019234; ORPHA:79189","Xref__c":"ORPHA:79189"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS214100","Source__c":"MONDO:0019234","Xref__c":"OMIMPS:214100"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832200","Source__c":"C1832200","Xref__c":"C1832200"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080377","Source__c":"MONDO:0019234","Xref__c":"DOID:0080377"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C155747","Source__c":"C1832200; MONDO:0019234","Xref__c":"C155747"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019234","Source__c":"GARD:0011890","Xref__c":"MONDO:0019234"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1448","Source__c":"Gene Review","Xref__c":"NBK1448"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism","Leukodystrophy"],"Specialist":["Genetics","Neurology","Ophthalmology","Gastroenterology","Retinal","Neuromuscular medicine","Pediatrics"],"Account":["Leukodystrophy","Retinal","Peripheral Neuropathy"]},"synonyms":["pbd-zsd"," pbd, zss"," peroxisomal biogenesis disorders"," peroxisomal biogenesis disorders, zellweger syndrome spectrum"," peroxisome biogenesis disorder spectrum"," peroxisome biogenesis disorder-zellweger spectrum disorder"," peroxisome biogenesis disorder-zellweger syndrome spectrum"," peroxisome biogenesis disorders, zellweger syndrome spectrum"]}